rs144104124

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	6	Friedreich's ataxia
(G;T)	3	carrier of a Friedreich's ataxia allele
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

69072722

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs144104124
dbSNP (classic)	rs144104124
ClinGen	rs144104124
ebi	rs144104124
HLI	rs144104124
Exac	rs144104124
Gnomad	rs144104124
Varsome	rs144104124
LitVar	rs144104124
Map	rs144104124
PheGenI	rs144104124
Biobank	rs144104124
1000 genomes	rs144104124
hgdp	rs144104124
ensembl	rs144104124
geneview	rs144104124
scholar	rs144104124
google	rs144104124
pharmgkb	rs144104124
gwascentral	rs144104124
openSNP	rs144104124
23andMe	rs144104124
SNPshot	rs144104124
SNPdbe	rs144104124
MSV3d	rs144104124
GWAS Ctlg	rs144104124

Max Magnitude

6

rs144104124, also known as c.593 T>G or p.L198R, is a mutation in the FXN gene on chromosome 9.

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk	Rs144104124(G;G)
Alt	Rs144104124(G;G)
Reference	Rs144104124(T;T)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71687638T>G
CLNSRC
CLNACC

[PMID 10874325] A novel missense mutation (L198R) in the Friedreich's ataxia gene.